Description
Activin A receptor type II-like 1, also known as ACVRL1, is a human gene. ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as "activin receptor-like kinase 1", or "ALK1". This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2 suggesting a critical role for ALK-1 in the control of blood vessel development or repair. Human and mouse ALK-1 share approximately 71% amino acid sequence identity in their extracellular regions